RGD:11652176 Rat Genome Database

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Variant: RGD:11652176 -  Homo sapiens

RGD ID: 11652176
RS ID: rs886060897
ClinVar ID: CV300776
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127406909  SIM1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 100,896,345
GRCh38 6 100,448,469
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008230.1:g.20207C>G
NC_000006.12:g.100448469G>C
NC_000006.11:g.100896345G>C
NM_005068.3:c.743+10C>G
More... 		10/07/2019 intron variant likely benign|uncertain significance Arthrogryposis, distal, with hypopituitarism, intellectual disability, and facial anomalies; MAGEL2-related Prader-Willi-like syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SIM1
Accession:NM_001374769
Location:INTRON

Gene Symbol:SIM1
Accession:NM_005068
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000303368 CLINVAR
  RCV003932462 CLINVAR
dbSNP (RS) rs886060897 CLINVAR
MedGen C5575066 CLINVAR
NCBI Gene SIM1 CLINVAR
OMIM 603128 CLINVAR
  615547 CLINVAR
SNOMED CT 1229946007 CLINVAR